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ISSN 2063-5346
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Role of NGS based genomic profiling analysis in identifying targetable genetic alterations in pediatric western Saudi Arabia sarcomas patients: Advanced insights into PTEN

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Hassan Fouad Huwait1,Hanan Mohammed Abd Elmoneim1,2,Mariana Fathy Gayyed2,Rabab Ahmed Moussa2
» doi: 10.48047/ecb/2023.12.10.722

Abstract

Background: PTEN is one of the frequently mutated genes in different sarcoma subtypes. This study aims to investigate the potential role and alterations of the PTEN gene in various pediatric sarcoma cases. Methods:169 Saudi pediatric sarcomas patients had full clinical and follow-up data. Next generation sequencing (NGS)-based genomic profiling analysis was done for pediatric sarcomas cases, including rhabdomyosarcoma (RMS), osteosarcoma (OS), and Ewing's sarcoma (ES). Detection of PTEN gene mutation and its asocaiation with loss of PTEN protein expression was investigated. Results: PTEN protein expression was lost in 54 (31.9%) of studied cases. For different sarcoma subgroups,

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